Canonical Allele Identifier: CA359780682

Gene: MAP3K1

Linked Data

• ClinVar Variation Id: 430732
• ClinVar RCV Id: RCV000495857
• dbSNP Id: rs1131692186
• MyVariant Identifiers: chr5:g.56170932T>A (hg19) ; chr5:g.56875105T>A (hg38)
• PubMed: PMID:28504475

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56875105T>A , CM000667.2:g.56875105T>A	GRCh38
NC_000005.9:g.56170932T>A , CM000667.1:g.56170932T>A	GRCh37
NC_000005.8:g.56206689T>A	NCBI36
NG_031884.1:g.65033T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000399503.4:c.1760T>A MANE Select	ENSP00000382423.3:p.Leu587His
ENST00000399503.3:c.1760T>A	ENSP00000382423.3:p.Leu587His
NM_005921.1:c.1760T>A	NP_005912.1:p.Leu587His
XM_005248519.3:c.1382T>A	XP_005248576.2:p.Leu461His
XM_011543406.1:c.1505T>A	XP_011541708.1:p.Leu502His
XM_011543407.1:c.1686+2100T>A	XP_011541709.1:n.1686+2100T>A
XM_011543408.1:c.1760T>A	XP_011541710.1:p.Leu587His
XM_017009484.1:c.1349T>A	XP_016864973.1:p.Leu450His
XM_017009485.1:c.1271T>A	XP_016864974.1:p.Leu424His
XR_001742068.2:n.1791T>A
NM_005921.2:c.1760T>A MANE Select	NP_005912.1:p.Leu587His